NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. (Q33910158)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15318302%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations (English)

1 reference

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Cornelia de Lange syndrome

31 December 2019

main subject

1 reference

1 reference

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9

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31 December 2019

author name string

Lynette A Gillis

1

1 reference

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31 December 2019

Jennifer McCallum

2

1 reference

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31 December 2019

Maninder Kaur

3

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31 December 2019

Cheryl DeScipio

4

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31 December 2019

Dinah Yaeger

5

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31 December 2019

Allison Mariani

6

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31 December 2019

Antonie D Kline

7

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31 December 2019

Hui-hua Li

8

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31 December 2019

Laird G Jackson

10

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31 December 2019

Ian D Krantz

11

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31 December 2019

language of work or name

English

0 references

publication date

18 August 2004

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American Journal of Human Genetics

31 December 2019

published in

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volume

75

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31 December 2019

page(s)

610-623

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31 December 2019

issue

4

1 reference

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

31 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Autosomal dominant inheritance of Brachmann-de Lange syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

de Lange syndrome: a clinical review of 310 individuals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Developmental data on individuals with the Brachmann-de Lange syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

The Brachmann-de Lange syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Brachmann-de Lange syndrome in sibs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Male-to-male transmission of mild Brachmann-de Lange syndrome.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182048

Familial de Lange syndrome. Report of three cases in a sibship

29 October 2018

1 reference

12 December 2020

Brachmann-de Lange syndrome. Report of two cases in a sibship

1 reference

12 December 2020

Familial occurrence of Brachmann-de Lange syndrome

1 reference

12 December 2020

The Brachmann-de Lange syndrome in two siblings of normal parents

1 reference

12 December 2020

Growth manifestations in the Brachmann-de Lange syndrome

1 reference

12 December 2020

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system

1 reference

12 December 2020

Brachmann-de Lange syndrome. Delineation of the clinical phenotype

1 reference

12 December 2020

Variability of the Brachmann-de Lange syndrome

1 reference

12 December 2020

Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization

1 reference

12 December 2020

Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance

1 reference

12 December 2020

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

1 reference

12 December 2020

Identifiers

DOI

10.1086/424698

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15318302%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

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31 December 2019

1 reference